Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut SMCHD1 23347 broad.mit.edu 37 18 2728543 2728543 + Silent SNP A A G TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr18:2728543A>G uc002klm.4 + 22 3051 c.2862A>G c.(2860-2862)ttA>ttG p.L954L SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 954 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 TGGAAGTTTTAGATGAATCAG 0.358000 21 27 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15124046 15124046 + Missense_Mutation SNP A A T TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr3:15124046A>T uc003bzm.1 - 8 1282 c.668T>A c.(667-669)gTc>gAc p.V223D ZFYVE20_uc010hek.1_Missense_Mutation_p.V223D|ZFYVE20_uc011avn.1_Intron NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA. 223 Necessary for the correct targeting to endosomes.|Ser-rich. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GGAGCCATGGACACTGTTGGG 0.592000 5 57 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 27035361 27035361 + Missense_Mutation SNP C C A TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr10:27035361C>A uc001isv.3 + 11 1253 c.1207C>A c.(1207-1209)Ctc>Atc p.L403I PDSS1_uc001isw.3_3'UTR|PDSS1_uc010qdf.2_Missense_Mutation_p.L141I NM_014317 NP_055132 Q5T2R2 DPS1_HUMAN Homo sapiens prenyl (decaprenyl) diphosphate synthase, subunit 1 (PDSS1), mRNA. 403 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 AAGAGATGCCCTCATTCAGCT 0.433000 20 40 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 26 32 0 0 1 0 0 UBE4A 9354 broad.mit.edu 37 11 118240215 118240215 + Missense_Mutation SNP G G C TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr11:118240215G>C uc001psv.3 + 3 508 c.373G>C c.(373-375)Gat>Cat p.D125H UBE4A_uc001psw.3_Missense_Mutation_p.D125H NM_004788 NP_004779 Q14139 UBE4A_HUMAN Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 1, mRNA. 125 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AGAGCTAGAAGATCAAGACTG 0.428000 5 42 0 0 1 0 0 PAQR4 124222 broad.mit.edu 37 16 3019765 3019765 + Silent SNP G G A TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr16:3019765G>A uc002csj.4 + 0 424 c.90G>A c.(88-90)cgG>cgA p.R30R PAQR4_uc002csk.4_Silent_p.R30R|PAQR4_uc002csl.4_Silent_p.R30R|PAQR4_uc010uwm.2_5'Flank NM_152341 NP_689554 Q8N4S7 PAQR4_HUMAN Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA. 30 integral to membrane receptor activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 8 CCGGGTACCGGCCCGCCAGCA 0.692000 10 22 0 0 1 0 0 KYNU 8942 broad.mit.edu 37 2 143790821 143790821 + Silent SNP T T G TCGA-L6-A4ET-01A-11D-A257-08 TCGA-L6-A4ET-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 546b97b0-ab82-42a1-bbd2-241523278ec3 ea509942-fcac-486f-ac3d-37457bab29db g.chr2:143790821T>G uc010fnm.3 + 12 1188 c.972T>G c.(970-972)ccT>ccG p.P324P KYNU_uc002tvl.3_Silent_p.P324P NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 324 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) AGTTAATCCCTGGGGTCTGTG 0.378000 54 97 0 0 1 0 0